THE

ANGeLMAN SYNDROME

• Named after physician Harry Angelman.
• Most children with Angelman syndrome have a microcephaly (small head size).
• Affects people from 1 in 12,000 to 20,000
• Children with Angelman syndrome typically have a happy, frequent smiling, laughter, and hand-flapping movements.
• They have trouble balance and they have trouble with their nervous system.
• The difference in their chromosomes is that in chromosome 15 both chromosomes paternal instead of one being paternal and one being maternal.
• This syndrome can affect both genders.

KLINEFELTER SYNDROME

• This affect both genders.
• People with this syndrome have trouble with learning, speech, and language.
• People with this syndrome are usually quite, sensitive, and unassertive.
• Breast tissue will start to develop.
• This syndrome causes people to have a extra chromosome in the X chromosome.
• This syndrome was named after Dr.Hurry Klinefelter.

TURNER SYNDROME

• Missing an extra copy
• This syndrome effects 1-2,500 children
• 30% females have extra folds of skin in the neck (webbed neck)
• Kidney problems & skeletal abnormalities.
• Puffiness & swelling of hands and feet
• Named after Dr.Henry Turner.
• Affects only females.

DOWN SYNDROME

• 80% of children with Down syndrome are born to mothers under 35
• Named after John Langdon down
• Theirs a third copy of chromosome 21.
• Physical & intellectual disabilities
• Affects both genders.

CRI DU CHAT SYNDROME

• One chromosome in chromosome 5 is missing a part (one chromosome looks bigger)
• Small at birth
• Respiratory problems
• Jerome lejeune identified this syndrome.
• French for "cat cry"
• When a doctor hears a baby gave a cat like cry there's a chance that it has this syndrome.
• This affects 1-20,000 to 50,000
• Both genders can get this.

CRYSTIC FIBROSIS

• Dr.Dorothy Anderson discovered this syndrome.
• Life threatening disorder.
• Damages lungs & digestive system.
• Clubbing of the finger and feet.
• Thick and sticky mucus.
• Disease cause by mutations in gene on chromosome 7.
• CF occurs because of mutations in the gene that makes a protein called CFTR.
• Abnormal CFTR protein or no CFTR protein at all causes thinks and sticky mucus.